Gene Variant Detail

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Gene MLH1
Variant I330del
Impact List deletion
Protein Effect loss of function
Gene Variant Descriptions MLH1 I330del results in the deletion of an amino acid in the ATPase domain of the Mlh1 protein (PMID: 22753075) at amino acid 330. I330del confers a loss of function on the Mlh1 protein as demonstrated by reduced mismatch repair activity (MMR) in an in-vitro assay and altered subcellular localization as compared to wild-type (PMID: 21120944).
Associated Drug Resistance

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Transcript NM_000249.3
gDNA chr3:g.37020413_37020415delATC
cDNA c.988_990delATC
Protein p.I330delI
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354624.1 chr3:g.37048976_37048978delAAG c.988_990delAAG p.K330delK RefSeq GRCh38/hg38
NM_001167618.2 chr3:g.37042311_37042313delTTT c.988_990delTTT p.F330delF RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37020413_37020415delATC c.988_990delATC p.I330delI RefSeq GRCh38/hg38
XM_005265161.2 chr3:g.37025794_37025796delCTC c.989_991delCTC p.P330delP RefSeq GRCh38/hg38
NM_001167619 chr3:g.37042311_37042313delTTT c.988_990delTTT p.F330delF RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.37020413_37020415delATC c.988_990delATC p.I330delI RefSeq GRCh38/hg38
NM_001354625.1 chr3:g.37048976_37048978delAAG c.988_990delAAG p.K330delK RefSeq GRCh38/hg38
NM_001354621.1 chr3:g.37048925_37048927delGAA c.988_990delGAA p.E330delE RefSeq GRCh38/hg38
NM_001354623.1 chr3:g.37048925_37048927delGAA c.988_990delGAA p.E330delE RefSeq GRCh38/hg38
XM_017006450.2 chr3:g.37048925_37048927delGAA c.988_990delGAA p.E330delE RefSeq GRCh38/hg38
NM_001354620.1 chr3:g.37025882_37025884delTGA c.990_992delTGA p.D330delD RefSeq GRCh38/hg38
NM_000249 chr3:g.37020413_37020415delATC c.988_990delATC p.I330delI RefSeq GRCh38/hg38
XM_011533727 chr3:g.37048976_37048978delAAG c.988_990delAAG p.K330delK RefSeq GRCh38/hg38
NM_001354622.1 chr3:g.37048925_37048927delGAA c.988_990delGAA p.E330delE RefSeq GRCh38/hg38
NM_001354615.1 chr3:g.37042311_37042313delTTT c.988_990delTTT p.F330delF RefSeq GRCh38/hg38
NM_001258271 chr3:g.37020413_37020415delATC c.988_990delATC p.I330delI RefSeq GRCh38/hg38
XM_005265166 chr3:g.37048925_37048927delGAA c.988_990delGAA p.E330delE RefSeq GRCh38/hg38
NM_001258273 chr3:g.37042311_37042313delTTT c.988_990delTTT p.F330delF RefSeq GRCh38/hg38
NM_001354616.1 chr3:g.37042311_37042313delTTT c.988_990delTTT p.F330delF RefSeq GRCh38/hg38
XM_005265161 chr3:g.37025794_37025796delCTC c.989_991delCTC p.P330delP RefSeq GRCh38/hg38
XM_017006450 chr3:g.37048925_37048927delGAA c.988_990delGAA p.E330delE RefSeq GRCh38/hg38
NM_001354619.1 chr3:g.37042311_37042313delTTT c.988_990delTTT p.F330delF RefSeq GRCh38/hg38
NM_001167617.2 chr3:g.37025882_37025884delTGA c.990_992delTGA p.D330delD RefSeq GRCh38/hg38
NM_001167618 chr3:g.37042311_37042313delTTT c.988_990delTTT p.F330delF RefSeq GRCh38/hg38
NM_001354617.1 chr3:g.37042311_37042313delTTT c.988_990delTTT p.F330delF RefSeq GRCh38/hg38
NM_001258274 chr3:g.37042311_37042313delTTT c.988_990delTTT p.F330delF RefSeq GRCh38/hg38
XM_017006451 chr3:g.37048976_37048978delAAG c.988_990delAAG p.K330delK RefSeq GRCh38/hg38
NM_001167617 chr3:g.37025882_37025884delTGA c.990_992delTGA p.D330delD RefSeq GRCh38/hg38
NM_001354629.1 chr3:g.37025689_37025691delCAA c.992_994delCAA p.T331delT RefSeq GRCh38/hg38
NM_001258273.1 chr3:g.37042311_37042313delTTT c.988_990delTTT p.F330delF RefSeq GRCh38/hg38
XM_017006449 chr3:g.37048925_37048927delGAA c.988_990delGAA p.E330delE RefSeq GRCh38/hg38
NM_001354627.1 chr3:g.37048976_37048978delAAG c.988_990delAAG p.K330delK RefSeq GRCh38/hg38
NM_001167619.2 chr3:g.37042311_37042313delTTT c.988_990delTTT p.F330delF RefSeq GRCh38/hg38
XM_005265164 chr3:g.37042311_37042313delTTT c.988_990delTTT p.F330delF RefSeq GRCh38/hg38
NM_001258274.2 chr3:g.37042311_37042313delTTT c.988_990delTTT p.F330delF RefSeq GRCh38/hg38
XM_005265163 chr3:g.37042311_37042313delTTT c.988_990delTTT p.F330delF RefSeq GRCh38/hg38
NM_001354618.1 chr3:g.37042311_37042313delTTT c.988_990delTTT p.F330delF RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.37020413_37020415delATC c.988_990delATC p.I330delI RefSeq GRCh38/hg38
NM_001354626.1 chr3:g.37048976_37048978delAAG c.988_990delAAG p.K330delK RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.37020413_37020415delATC c.988_990delATC p.I330delI RefSeq GRCh38/hg38

Filtering

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  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
MLH1 inact mut colorectal cancer not applicable N/A Preclinical Emerging In a preclinical study, MLH1 inactivation through hypermethylation was associated with high microsatellite instability (MSI-H) colorectal carcinoma by whole genome sequencing of tumor samples (PMID: 22810696), suggesting it may be a potential biomarker. 22810696
MLH1 mutant endometrial carcinoma not applicable N/A Guideline Risk Factor Germline mutations in MLH1 result in Lynch syndrome, which is associated with increased risk of developing endometrial carcinoma (NCCN.org). detail...
MLH1 mutant small intestine adenocarcinoma not applicable N/A Guideline Risk Factor Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing small bowel adenocarcinoma (NCCN.org). detail...
MLH1 mutant stomach cancer not applicable N/A Guideline Risk Factor Germline mutations in MLH1 result in Lynch syndrome, which is associated with increased risk of early onset of gastric cancer (NCCN.org). detail...
MLH1 mutant pancreatic cancer not applicable N/A Guideline Risk Factor Germline mutations in MLH1 result in Lynch syndrome, which is associated with increased risk of developing pancreatic cancer (NCCN.org). detail...
MLH1 mutant colon cancer not applicable N/A Guideline Risk Factor Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing colon cancer (NCCN.org). detail...
MLH1 mutant rectum cancer not applicable N/A Guideline Risk Factor Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing colorectal cancer (NCCN.org). detail...
Molecular Profile Protein Effect Treatment Approaches
MLH1 I330del loss of function